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Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

BACKGROUND: Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 (EXT1) and exostosin glycosyltransferase...

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Detalles Bibliográficos
Autores principales:	Al-Zayed, Zayed, Al-Rijjal, Roua A., Al-Ghofaili, Lamya, BinEssa, Huda A., Pant, Rajeev, Alrabiah, Anwar, Al-Hussainan, Thamer, Zou, Minjing, Meyer, Brian F., Shi, Yufei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7905910/ https://www.ncbi.nlm.nih.gov/pubmed/33632255 http://dx.doi.org/10.1186/s13023-021-01738-z

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